E46G (p.Glu46Gly) variant of ZRSR2 (Q15696)
E46G (p.Glu46Gly) in ZRSR2 (Q15696) is a missense change. The available variant effect predictions contribute to a CATVariant prioritization score of 0.29 / 1. The record also includes population frequency data, published literature, and structural context.
E46G (p.Glu46Gly) variant details
- p.Glu46Gly
- gnomAD X-15799887-A-G
- Missense
- Variant Prioritization Score for Impact Estimate 0.292
- REVEL 0.07
- MetaLR 0.52
- MetaSVM 0.13
- CADD 24.90
- PolyPhen-2 0.24
- SIFT 0.13
- Population evidence available
- Structural context available
- Literature evidence available